Oct. 13, 2015

A team of investigators from OHSU and PNNL has been selected to lead the sole Metabolomics Core supporting the NIH Undiagnosed Diseases Network (UDN). This collaborative project will be funded by an NIH award of approximately $1.8 million over three years and represents the first, large-scale scientific project to leverage the expertise of the newly established OHSU-PNNL Northwest Co-Laboratory for Integrated 'Omics, a joint endeavor between OHSU and PNNL.

The NIH Undiagnosed Diseases Network was developed in order to expand the capacity of the Undiagnosed Disease Program at the NIH in Bethesda, Md. The goal of the UDN is to develop cross-disciplinary approaches to identify the etiology and pathophysiology of undiagnosed diseases based on the integration of clinical and laboratory data.

The UDN includes seven clinical sites (see image above). There are also two DNA sequencing cores located at Baylor College of Medicine and the Medical College of Wisconsin, and a coordinating center at Harvard.

Making an impact

With this award, the OHSU and PNNL teams will establish a Metabolomics Core, which will apply innovative and advanced assay methods to samples sent from the UDN's clinical sites to enable detection and quantitation of metabolites. These metabolites will provide clues to augment the clinical, genomic and other types of data generated at sites within the UDN.

Thomas Metz, Ph.D., staff scientist at the Department of Energy's Pacific Northwest National Laboratory, and David Koeller, M.D., professor of molecular and medical genetics in the OHSU School of Medicine and director of the OHSU Metabolic Clinic, are principal investigators on the collaborative project.

The team also includes Melissa Haendel, Ph.D., associate professor in the OHSU Library, and assistant professor of medical informatics and clinical epidemiology in the OHSU School of Medicine.

"What the co-laboratory brings to this collaborative project is a unique capability in highly-specialized, innovative metabolomic techniques and analyses," said Dr. Metz. "Our entire team is honored, as the sole Metabolomics Core for the UDN, to deliver these national services in support of NIH's efforts. We look forward to making an impact in the diagnosis of these rare and unknown diseases."

Analysis of patient data will include "deep phenotyping," an approach to characterizing clinical features clearly and concisely that increases the diagnostic utility of genomic, metabolomics and model organism datasets. Deep phenotyping was developed by Dr. Haendel and other members of an international consortium, the Monarch Initiative, which has been collaborating with the NIH Undiagnosed Disease Program for several years. 

Combined expertise

The collaborative project also draws upon OHSU's strengths in rare disorder research and clinical care.

"This collaboration provides an opportunity to focus our combined expertise in metabolomics, deep phenotyping and inherited metabolic diseases on the problem of diagnosing the rare and unexplained disorders that will be encountered at the UDN clinical sites" said Dr. Koeller. "The knowledge gained from this project can also be leveraged to provide additional future benefits, such as the identification of novel methods and biomarkers that can be applied more broadly for the diagnosis and treatment of more common conditions."

“This is a fine example of how, by combining OHSU and PNNL’s faculty and technical expertise, our institutions can successfully gain opportunities to participate in national scientific projects not available to us otherwise,” said Mary Stenzel-Poore, Ph.D., senior associate dean for research in the OHSU School of Medicine. “Partnerships such as these will help all of us accelerate scientific findings and advance clinical care.”

This research is supported by the National Center for Advancing Translational Sciences of the National Institutes of Health under award number U01TR001395. 

About the OHSU-PNNL Northwest Co-Laboratory for Integrated 'Omics

Oregon Health & Science University and the Department of Energy's Pacific Northwest National Laboratory have formed the OHSU-PNNL Northwest Co-Laboratory for Integrated 'Omics to share their research programs and leading-edge technology for biological mass spectrometry in pursuit of disease markers for new therapies.

In the news

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